PDZK1

Na(+)/H(+) exchange regulatory cofactor NHE-RF3 is a protein that in humans is encoded by the PDZK1 gene.^[5][6]

PDZK1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2EEI, 2EEJ, 2VSP, 3TMH, 4Q2P
Identifiers
Aliases	PDZK1, CAP70, CLAMP, NHERF-3, NHERF3, PDZD1, PDZ domain containing 1
External IDs	OMIM: 603831; MGI: 1928901; HomoloGene: 1964; GeneCards: PDZK1; OMA:PDZK1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q21.1 Start 145,670,852 bp[1] End 145,708,148 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 F2.1 Start 96,736,600 bp[2] End 96,778,242 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in duodenum right lobe of liver cerebellar cortex cerebellar hemisphere gallbladder human kidney right hemisphere of cerebellum body of pancreas islet of Langerhans testicle Top expressed in right kidney human kidney proximal tubule efferent ductule yolk sac seminiferous tubule jejunum spermatid primary oocyte ileum More reference expression data BioGPS n/a
Gene ontology Molecular function scavenger receptor binding protein-containing complex binding PDZ domain binding protein binding transporter activity Cellular component membrane raft brush border membrane plasma membrane extracellular exosome apical plasma membrane membrane microvillus membrane Biological process cell population proliferation carnitine transport positive regulation of ion transmembrane transport regulation of anion transport positive regulation of protein targeting to membrane transport positive regulation of ion transmembrane transporter activity positive regulation of cation transmembrane transport xenobiotic detoxification by transmembrane export across the plasma membrane Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5174 59020 Ensembl ENSG00000174827 ENSMUSG00000038298 UniProt Q5T2W1 Q9JIL4 RefSeq (mRNA) NM_001201325 NM_001201326 NM_002614 NM_001146001 NM_021517 NM_001355710 RefSeq (protein) NP_001188254 NP_001188255 NP_002605 NP_001358288 NP_001358290 NP_001139473 NP_067492 NP_001342639 Location (UCSC) Chr 1: 145.67 – 145.71 Mb Chr 3: 96.74 – 96.78 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Interactions

PDZK1 has been shown to interact with:

• AKAP10,^[7]
• CLCN3,^[8]
• Cystic fibrosis transmembrane conductance regulator^[8][9]
• FARP2,^[7]
• PDZK1IP1,^[7][10][11]
• SLC22A12,^[7]
• SLC22A4,^[7]
• SLC34A3,^[7]
• SLK,^[7] and
• Sodium-hydrogen antiporter 3 regulator 1.^[7]

Related gene problems

• TAR syndrome^[12]
• 1q21.1 deletion syndrome
• 1q21.1 duplication syndrome